Deafness and congenital structural abnormalitiesGene: PORCN
PORCN is Goltz syndrome gene, different to this phenotype
Created: 17 Oct 2016, 12:34 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mode of pathogenicity
Comment on list classification: Ear malformation is not always a feature of Fraser syndrome
Created: 20 Sep 2016, 6:38 a.m.
Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least five variants reported.
Created: 19 Sep 2016, 2:53 p.m.
26th Oct 2016: the panels Bilateral microtia version 1.10, Ear malformations with hearing impairment version 0.105, and familial hemifacial microsomia version 0.149 gene panels were combined to create this panel. The panel was revised due to expert review, further curation of evidence and internal clinical evaluation. Ready for promotion to version 1.
This gene has been classified as Red List (Low Evidence).
PORCN was added to Deafness and congenital structural abnormalitiespanel. Source: Expert Review Red
PORCN was created by sleigh
PORCN was added to Deafness and congenital structural abnormalitiespanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen